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Gene: Cplx1 MGI:104727

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
complexin 1
Synonyms:
921-S

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Cplx1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Cplx1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Familial Infantile Myoclonic Epilepsy
Interictal EEG abnormality, EEG with focal spike waves, Bilateral tonic-clonic seizure with gener... ORPHA:352582
Developmental And Epileptic Encephalopathy 63
Epileptic spasm, Generalized-onset seizure, Bilateral tonic-clonic seizure, Cerebral palsy, Condu... OMIM:617976
Wolf-Hirschhorn Syndrome
Low-set, posteriorly rotated ears, Ataxia, Cryptorchidism, Optic atrophy, Seizure, Microtia, Hear... ORPHA:280

The table below shows human diseases predicted to be associated to Cplx1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Deafness-Infertility Syndrome
Male infertility, Azoospermia, Sensorineural hearing impairment ORPHA:94064
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Abnormal sperm morphology, Sensorineural hearing impairment, Immotile sperm OMIM:608653
Spermatogenic Failure, X-Linked, 5
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... OMIM:301099
Spermatogenic Failure 83
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... OMIM:620354
Deafness-Infertility Syndrome
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... OMIM:611102
Spermatogenic Failure 72
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:619867
Spermatogenic Failure 34
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:618153
Spermatogenic Failure 73
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619878
Spermatogenic Failure 59
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619645
Spermatogenic Failure 60
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619646
Spermatogenic Failure 74
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619937
Spermatogenic Failure 57
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... OMIM:619528
Spermatogenic Failure 29
Male infertility, Non-obstructive azoospermia, Immotile sperm OMIM:618091
Spermatogenic Failure 50
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size OMIM:619145
Spermatogenic Failure 37
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618429
Spermatogenic Failure 18
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:617576
Spermatogenic Failure 46
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:619095
Spermatogenic Failure 27
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:617965
Spermatogenic Failure 33
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618152
Spermatogenic Failure 65
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619712
Spermatogenic Failure 56
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619515
Spermatogenic Failure 43
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618751
Spermatogenic Failure 45
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619094
Spermatogenic Failure 19
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:617592
Spermatogenic Failure 82
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... OMIM:620353
Spermatogenic Failure 49
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619144
Spermatogenic Failure 32
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:618115
Spermatogenic Failure 71
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:619831
Spermatogenic Failure 58
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... OMIM:619585
Spermatogenic Failure 3
Male infertility, Reduced sperm motility OMIM:606766
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Spermatogenic Failure 7
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia OMIM:612997
Spermatogenic Failure 62
Male infertility, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Male infertility, Non-obstructive azoospermia OMIM:619672
Spermatogenic Failure, X-Linked, 3
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... OMIM:301059
Spermatogenic Failure, Y-Linked, 2
Male infertility, Azoospermia OMIM:415000
Spermatogenic Failure 4
Male infertility, Azoospermia OMIM:270960
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Spermatogenic Failure 23
Male infertility, Azoospermia OMIM:617707
Spermatogenic Failure 40
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... OMIM:618664
Spermatogenic Failure 76
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... OMIM:620084
Spermatogenic Failure 80
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... OMIM:620222
Spermatogenic Failure 70
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia OMIM:619828
Spermatogenic Failure 47
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella OMIM:619102
Spermatogenic Failure, X-Linked, 6
Male infertility, Coiled sperm flagella, Reduced sperm motility, Absent sperm axoneme central pai... OMIM:301101
Spermatogenic Failure 54
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... OMIM:619379
Spermatogenic Failure 63
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia OMIM:619689
Spermatogenic Failure 42
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... OMIM:618745
Spermatogenic Failure 79
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia OMIM:620196
Spermatogenic Failure 39
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... OMIM:618643
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Re... ORPHA:529970
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Positive Romberg sign, Prelingual sensorineural hearing impa... OMIM:616515
Spermatogenic Failure 11
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:615081
Spermatogenic Failure 10
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:614822
Spermatogenic Failure 17
Male infertility OMIM:617214
Spermatogenic Failure 41
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella OMIM:618670
Autosomal Recessive Spastic Paraplegia Type 46
Lower limb spasticity, Broad-based gait, Ataxia, Hearing impairment, Babinski sign, Abnormal pyra... ORPHA:320391
Spermatogenic Failure 35
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618341
Spermatogenic Failure 44
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:619044
Spermatogenic Failure 16
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Spermatogenic Failure 21
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Spermatogenic Failure 20
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617593
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Seizure, Abnormal social behavior, Low-set ears, EEG abnormality ORPHA:436151
Spermatogenic Failure 30
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest OMIM:618110
Spermatogenic Failure 64
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... OMIM:619696
Autosomal Recessive Spastic Paraplegia Type 44
Lower limb spasticity, Somatic sensory dysfunction, Ataxia, Abnormal auditory evoked potentials, ... ORPHA:320401
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... ORPHA:1646
Hereditary Geniospasm
EEG abnormality, Abnormal social behavior, Chin myoclonus, Intention tremor ORPHA:53372
Spermatogenic Failure 51
Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Macrozoospermia, Absent sp... OMIM:619177
Spermatogenic Failure 25
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia OMIM:617960
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia OMIM:619108
Auditory Neuropathy, Autosomal Dominant 1
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:609129
Spermatogenic Failure 22
Male infertility, Non-obstructive azoospermia, Cryptozoospermia OMIM:617706
Spermatogenic Failure 81
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia OMIM:620277
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment OMIM:601071
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials, Dis... OMIM:601382
Isochromosomy Yp
Male infertility, Azoospermia, Decreased testicular size ORPHA:98797
Spermatogenic Failure 24
Coiled sperm flagella, Tapered sperm head, Microcephalic sperm head, Short sperm flagella, Reduce... OMIM:617959
Spermatogenic Failure 78
Male infertility, Microcephalic sperm head, Tapered sperm head OMIM:620170
Ciliary Dyskinesia, Primary, 50
Male infertility, Reduced progressive sperm motility, Coiled sperm flagella, Short sperm flagella... OMIM:620356
Late-Infantile/Juvenile Krabbe Disease
Tremor, EEG with persistent abnormal rhythmic activity, Loss of ambulation, Ataxia, Clumsiness, I... ORPHA:206443
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Spermatogenic Failure 1
Male infertility, Cryptozoospermia, Oligozoospermia OMIM:258150
Spermatogenic Failure 5
Male infertility, Multiflagellar spermatozoa, Macrozoospermia OMIM:243060
Spastic Paraplegia 46, Autosomal Recessive
Impaired vibratory sensation, Lower limb spasticity, Babinski sign, Impaired vibration sensation ... OMIM:614409
Adult Krabbe Disease
Prolonged brainstem auditory evoked potentials, Somatic sensory dysfunction, Broad-based gait, At... ORPHA:206448
Hsd10 Disease
Ataxia, Tremor, Rigidity, Optic atrophy, Choreoathetosis, Seizure, Gait disturbance, Myoclonus, S... ORPHA:391417
Ravine Syndrome
Spasticity, Ataxia, Abnormal auditory evoked potentials ORPHA:99852
Spermatogenic Failure 31
Male infertility, Acephalic spermatozoa OMIM:618112
Spermatogenic Failure 26
Male infertility, Acephalic spermatozoa OMIM:617961
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility, Bilateral cryptorchidism OMIM:261550
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Facial palsy, Sensorineural hearing impairment, Choreoatheto... OMIM:617519
Adult-Onset Autosomal Dominant Leukodystrophy
Clonus, Tremor, Abnormal pyramidal sign, Impaired proprioception, Dysmetria, Gait ataxia, Hyperto... ORPHA:99027
Ciliary Dyskinesia, Primary, 41
Infertility, Immotile sperm OMIM:618449
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Ataxia, Abnormal auditory evoked potentials, Optic atrophy, Gait disturbance, Progressive sensori... OMIM:125250
Spermatogenic Failure 38
Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm motility, Tapered sperm h... OMIM:618433
Spermatogenic Failure, X-Linked, 7
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... OMIM:301106
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Impaired distal proprioception, Decreased nerve conduction v... OMIM:601455
Isochromosomy Yq
Male infertility, Azoospermia, Decreased testicular size ORPHA:98798
Female Restricted Epilepsy With Intellectual Disability
Bilateral tonic-clonic seizure, Generalized clonic seizure, Focal-onset seizure, Generalized non-... ORPHA:101039
Ciliary Dyskinesia, Primary, 46
Hearing impairment, Reduced sperm motility OMIM:619436
Optic Atrophy 8
Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... OMIM:616648
Spinocerebellar Ataxia Type 32
Male infertility, Azoospermia, Testicular atrophy, Progressive cerebellar ataxia ORPHA:276183
Classic Galactosemia
Male infertility, Speech apraxia, Premature ovarian insufficiency, Ataxia, Incoordination, Postur... ORPHA:79239
Charcot-Marie-Tooth Disease Type 1F
Impaired vibratory sensation, Absent brainstem auditory responses, Somatic sensory dysfunction, O... ORPHA:101085
Mohr-Tranebjaerg Syndrome
Absent brainstem auditory responses, Tremor, Inability to walk, Sensorineural hearing impairment,... ORPHA:52368
Spermatogenic Failure, X-Linked, 2
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest OMIM:309120
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial... OMIM:601596
Spondylometaphyseal Dysplasia, Axial
Optic atrophy, Reduced sperm motility OMIM:602271
Spermatogenic Failure 15
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:616950
Spermatogenic Failure 2
Male infertility, Non-obstructive azoospermia, Azoospermia, Oligozoospermia OMIM:108420
Familial Infantile Myoclonic Epilepsy
Interictal EEG abnormality, EEG with focal spike waves, Bilateral tonic-clonic seizure with gener... ORPHA:352582
Leukodystrophy, Hypomyelinating, 13
Prolonged brainstem auditory evoked potentials, Lower limb spasticity, Exaggerated startle respon... OMIM:616881
Autosomal Dominant Optic Atrophy Plus Syndrome
Absent brainstem auditory responses, Ataxia, Sensorineural hearing impairment, Spastic paraplegia... ORPHA:1215
Metachromatic Leukodystrophy, Late Infantile Form
Decreased nerve conduction velocity, Babinski sign, Optic atrophy, Spasticity, Gait ataxia, Clums... ORPHA:309256
Azoospermia, Obstructive, With Nephrolithiasis
Male infertility, Obstructive azoospermia OMIM:301060
Ciliary Dyskinesia, Primary, 34
Male infertility, Immotile sperm OMIM:617091
Lead Poisoning
Somatic sensory dysfunction, Decreased female libido, Abnormality of the autonomic nervous system... ORPHA:330015
Spermatogenic Failure 75
Male infertility, Non-obstructive azoospermia OMIM:619949
11Q22.2Q22.3 Microdeletion Syndrome
Seizure, Abnormal social behavior, Posteriorly rotated ears, Low-set ears ORPHA:444002
Spermatogenic Failure 77
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Azoospermia OMIM:620103
Spermatogenic Failure 6
Male infertility, Decreased acrosin in sperm head, Globozoospermia OMIM:102530
Metachromatic Leukodystrophy, Juvenile Form
Decreased nerve conduction velocity, Babinski sign, Optic atrophy, Spasticity, Clumsiness, Seizur... ORPHA:309263
Spermatogenic Failure 66
Male infertility, Globozoospermia OMIM:619799
Spermatogenic Failure 67
Male infertility, Globozoospermia OMIM:619803
Spermatogenic Failure 68
Male infertility, Globozoospermia OMIM:619805
Spermatogenic Failure 9
Male infertility, Globozoospermia OMIM:613958
Spermatogenic Failure 69
Male infertility, Globozoospermia OMIM:619826
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Optic disc pallor, Ataxia, Abnormal auditory evoked potentials, Sensorineural hearing impairment,... OMIM:619260
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Optic disc pallor, Frequent falls, Abnormal auditory evoked potentials OMIM:617523
Cockayne Syndrome Type 1
Absent brainstem auditory responses, Lower limb spasticity, Ataxia, Tremor, Cryptorchidism, Optic... ORPHA:90321
Ciliary Dyskinesia, Primary, 14
Male infertility, Reduced sperm motility, Immotile sperm OMIM:613807
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Absent brainstem auditory responses, Torticollis, Aganglionic megacolon, Ataxia, Short-segment ag... OMIM:609136
Infantile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Lower limb spasticity, Decreased nerve conduction... ORPHA:206436
Ciliary Dyskinesia, Primary, 26
Infertility, Reduced sperm motility OMIM:615500
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Macroorchidism, Oligozoospermia ORPHA:3000
Metachromatic Leukodystrophy, Adult Form
Decreased nerve conduction velocity, Chorea, Babinski sign, Optic atrophy, Spasticity, Clumsiness... ORPHA:309271
Ciliary Dyskinesia, Primary, 18
Male infertility, Immotile sperm OMIM:614874
47,Xyy Syndrome
Male infertility, Cryptorchidism, Oligozoospermia, Seizure, Azoospermia, Impaired social interact... ORPHA:8
Spermatogenic Failure 28
Male infertility, Non-obstructive azoospermia, Decreased testicular size OMIM:618086
Ciliary Dyskinesia, Primary, 36, X-Linked
Male infertility OMIM:300991
Chronic Bilirubin Encephalopathy
Cerebral palsy, Abnormal auditory evoked potentials, Sensorineural hearing impairment, Seizure, H... ORPHA:529808
Acute Bilirubin Encephalopathy
Cerebral palsy, Abnormal auditory evoked potentials, Sensorineural hearing impairment, Seizure, H... ORPHA:529799
Abcd Syndrome
Total intestinal aganglionosis, Aganglionic megacolon, Abnormal auditory evoked potentials, Heari... OMIM:600501
Ciliary Dyskinesia, Primary, 45
Male infertility OMIM:618801
Ciliary Dyskinesia, Primary, 12
Reduced sperm motility, Immotile sperm OMIM:612650
Lamb-Shaffer Syndrome
Ataxia, Optic atrophy, Seizure, Abnormal social behavior, Upper motor neuron dysfunction ORPHA:530983
Primary Ciliary Dyskinesia
Male infertility, Female infertility, Conductive hearing impairment, Abnormal sperm motility, Hea... ORPHA:244
Arthrogryposis, Distal, Type 2A
Hearing impairment, Seizure, Abnormal auditory evoked potentials, Cryptorchidism OMIM:193700
Ciliary Dyskinesia, Primary, 15
Infertility, Immotile sperm OMIM:613808
Ring Chromosome Y Syndrome
Male infertility, Streak ovary, Unilateral cryptorchidism, Female infertility, Cryptorchidism, Ab... ORPHA:261529
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Absent brainstem auditory responses, Head titubation, Vestibular areflexia, Spastic tetraplegia, ... ORPHA:3240
Childhood Absence Epilepsy
Bilateral tonic-clonic seizure, Typical absence seizure, Limb myoclonus, Febrile seizure (within ... ORPHA:64280
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:109120
Ciliary Dyskinesia, Primary, 22
Infertility, Reduced sperm motility OMIM:615444
Cerebrotendinous Xanthomatosis
Optic disc pallor, Somatic sensory dysfunction, Resting tremor, Ataxia, Parkinsonism, Abnormal au... ORPHA:909
Ciliary Dyskinesia, Primary, 11
Reduced sperm motility OMIM:612649
48,Xxxy Syndrome
Tremor, Cryptorchidism, Seizure, Azoospermia, Hypogonadism, Infertility, Abnormal social behavior... ORPHA:96263
Early-Onset Autosomal Dominant Alzheimer Disease
Ataxia, Parkinsonism, Seizure, Hypertonia, Myoclonus, Apraxia, Oculomotor apraxia, Abnormal socia... ORPHA:1020
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Optic disc pallor, Reduced sperm motility OMIM:615434
Spermatogenic Failure 14
Male infertility, Azoospermia OMIM:615842
Mend Syndrome
Abnormal auditory evoked potentials, Cryptorchidism, Seizure, Low-set ears, Abnormal social behav... ORPHA:401973
Spermatogenic Failure, X-Linked, 4
Male infertility, Azoospermia OMIM:301077
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Male infertility, Short sperm flagella, Coiled sperm flagella OMIM:620197
Trisomy 10P
Posteriorly rotated ears, Poor motor coordination, Abnormal auditory evoked potentials, EEG with ... ORPHA:171929
Ciliary Dyskinesia, Primary, 9
Male infertility OMIM:612444
Cockayne Syndrome A
Abnormal pinna morphology, Ataxia, Abnormal auditory evoked potentials, Decreased nerve conductio... OMIM:216400
Ciliary Dyskinesia With Defective Radial Spokes
Immotile sperm OMIM:242670
Mogs-Cdg
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy, Hydrocele t... ORPHA:79330
Developmental And Epileptic Encephalopathy 63
Epileptic spasm, Generalized-onset seizure, Bilateral tonic-clonic seizure, Cerebral palsy, Condu... OMIM:617976
Congenital Bilateral Absence Of Vas Deferens
Male infertility, Obstructive azoospermia, Oligozoospermia ORPHA:48
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Short ear, Ataxia, Abnormal cortical gyration, Unsteady gait, Abnormal pyramidal sign, Dysmetria,... ORPHA:314647
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Male infertility, Hypocalcemic seizures ORPHA:2239
Ciliary Dyskinesia, Primary, 5
Reduced sperm motility OMIM:608647
Fg Syndrome Type 1
Broad-based gait, Optic nerve hypoplasia, Cryptorchidism, Sensorineural hearing impairment, Cuppe... ORPHA:93932
Cockayne Syndrome B
Abnormal pinna morphology, Ataxia, Abnormal auditory evoked potentials, Decreased nerve conductio... OMIM:133540
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Male infertility, Azoospermia OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Male infertility, Azoospermia OMIM:277180
Niemann-Pick Disease Type C
Speech apraxia, Lower limb spasticity, Generalized-onset seizure, Ataxia, Tremor, Focal-onset sei... ORPHA:646
Ciliary Dyskinesia, Primary, 19
Male infertility OMIM:614935
Dihydropyrimidine Dehydrogenase Deficiency
Inability to walk, Focal motor seizure, Multifocal epileptiform discharges, Seizure, Large earlob... ORPHA:1675
Ciliary Dyskinesia, Primary, 1
Male infertility, Conductive hearing impairment OMIM:244400
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility OMIM:619607
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Reduced progressive sperm motility OMIM:619608
Koolen-De Vries Syndrome Due To A Point Mutation
Speech apraxia, Generalized-onset seizure, Testicular neoplasm, Hearing impairment, Focal hemiclo... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Speech apraxia, Generalized-onset seizure, Testicular neoplasm, Hearing impairment, Focal hemiclo... ORPHA:363958
Complete Androgen Insensitivity Syndrome
Bilateral cryptorchidism, Testicular neoplasm, Primary amenorrhea, Male infertility ORPHA:99429
Fanconi Anemia, Complementation Group A
Male infertility, Cryptorchidism, Hypergonadotropic hypogonadism, Hearing impairment OMIM:227650
Hereditary Amyloidosis With Primary Renal Involvement
Male infertility, Primary testicular failure, Oligozoospermia, Hypogonadism, Abnormal testis morp... ORPHA:85450
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Male infertility, Bilateral cryptorchidism, Irregular menstruation, Decreased fertility, Primary ... ORPHA:90793
Partial Androgen Insensitivity Syndrome
Male infertility, Bilateral cryptorchidism, Primary amenorrhea, Azoospermia, Male sexual dysfunction ORPHA:90797
Aromatase Deficiency
Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Female infertilit... ORPHA:91
Prader-Willi Syndrome Due To Translocation
Seizure, Abnormal social behavior, Hypogonadotropic hypogonadism, Impaired social interactions ORPHA:177907
Autosomal Dominant Polycystic Kidney Disease
Reduced sperm motility ORPHA:730
45,X/46,Xy Mixed Gonadal Dysgenesis
Male infertility, Low-set, posteriorly rotated ears, Streak ovary, Unilateral cryptorchidism, Bil... ORPHA:1772
46,Xy Partial Gonadal Dysgenesis
Male infertility, Streak ovary, Hypergonadotropic hypogonadism, Decreased fertility in females, C... ORPHA:251510
Carney Complex
Sertoli cell neoplasm, Testicular neoplasm, Testicular adrenal rest tumor, Oligozoospermia, Decre... ORPHA:1359
Williams Syndrome
Low-set, posteriorly rotated ears, Hypogonadotropic hypogonadism, Involuntary movements, Ataxia, ... ORPHA:904
Tuberous Sclerosis Complex
Epileptic spasm, Infantile spasms, Focal-onset seizure, Seizure, Status epilepticus, Abnormal soc... ORPHA:805
Noonan Syndrome 1
Male infertility, Cryptorchidism, Sensorineural hearing impairment, Hypogonadism, Low-set ears, H... OMIM:163950
Renal Cysts And Diabetes Syndrome
Reduced sperm motility OMIM:137920
Cystic Fibrosis
Male infertility OMIM:219700
Wolf-Hirschhorn Syndrome
Low-set, posteriorly rotated ears, Ataxia, Cryptorchidism, Optic atrophy, Seizure, Microtia, Hear... ORPHA:280

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Cplx1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Cplx1.

No publications found that use IMPC mice or data for Cplx1.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Cplx1tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Cplx1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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